ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)

dbSNP: rs1057517359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410940 SCV000487161 likely pathogenic Bloom syndrome 2016-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410940 SCV001589812 pathogenic Bloom syndrome 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371550). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser336Thrfs*2) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155).
Fulgent Genetics, Fulgent Genetics RCV000410940 SCV002797676 pathogenic Bloom syndrome 2022-03-16 criteria provided, single submitter clinical testing

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